Intracellular pH regulation of osteoblasts is of a great importance in the process of bone formation and resorption, and has been suggested to be mediated via intracellular Ca2+ and cAMP messenger systems. To elucidate the mechanism of modulation of intracellular pH by parathyroid hormone and PMA(Phorbo1-12-myristate-13-acetate), effects of these agonists on the individual transporter system, Na+-H+ antiporter and Cl−-HCO3-(−OH−) exchanger, were investigated. Intracellular pH and Ca2+ were measured by using the fluorescent dye BCECF and fura-2, respectively, in UMR-106 cell monolayer grown on glass coverslip. Addition of tumor promotor, PMA(luM) caused 0.14 unit pH rise of resting intracellular pH(pHi) and 38% increase of the initial rate of pHi recovery after cytosolic acid load. Perfusion of Cl−-free solution resulted in rapid cytosolic alkalinization of which the rate was increased 26% by preincubation of PMA. Ca2+ ionophore, ionomycin (1uM) decreased resting pHi by 0.17 unit, but had no effect on the initial rate of pHi recovery after cytosolic acid load. However, the addition of ionomycin augmented the initial rate of pHi increase after Cl−-depletion outside the cells by 34% over the control. Stimulation of cells with parathyroid hormone(10-8M) caused an initial acidification (0.27 unit) followed by cytosolic alkalinization, with inhibiting effect on the initial rate of pHi recovery after acid load (42%). But parathyroid hormone did not have any significant effect on the rate of pHi increase after Cl−-depletion. PMA caused a sustained increase of intracellular Ca2+, of which the peak depended on the concentration of Ca2+ in extracellular medium. Ionomycin caused a transient increase of Ca2+ but PTH had no significant increase of intracellular Ca2+ in the concentration range of 10-6M to 10-12M tested. 10-8M PTH increased cAMP levels by about 10-fold and 10-10M PTH did by 1.6-fold. PMA, which increased cytosolic Ca2+ concentration, also had an stimulatory effect on cAMP production in the concentration range of 10-5M to 10-6M by 2-fold. These findings suggest that in UMR-106 cells Ca2+ and cAMP can influence pHi by altering the activity of pHi regulatory transporter system, and parathyroid hormones modulate pHi by inhibiting Na+-H+ antiporter via intracellular increase of cAMP, which is probably accounts for the inhibitory effect of parathyroid hormone on the proliferation of osteoblasts.
Cytosol ; Fura-2 ; Glass ; Hydrogen-Ion Concentration ; Ion Transport ; Ionomycin ; Osteoblasts ; Osteogenesis ; Parathyroid Hormone ; Perfusion

This is the first reported case of a unique interstitial deletion involving the long arm of chromosome 17 in a Korean male infant born to parents with normal karyotype. The patient presented with multiple congenital malformations suggestive of chromosomal anomaly including round face, upslanted palpebral fissure, hypertelorism, posteriorly rotated low set ear, micrognathia, microcephaly, finger- like thumb, bilateral hearing loss, cryptorchidism, and severe developmental delay found upon outpatient follow-ups. A table of comparison is shown in between our case with previously reported 3 cases by Park, et al.(1992), Dallapiccola, et al.(1993), and Khalifa, et al.(1993).
Arm ; Chromosomes, Human, Pair 17 ; Cryptorchidism ; Ear ; Follow-Up Studies ; Hearing Loss, Bilateral ; Humans ; Hypertelorism ; Infant ; Karyotype ; Male ; Microcephaly ; Outpatients ; Parents ; Thumb

No abstract available.
Humans ; Siblings*

Nonketotic hyperglycinemia is an extremely rare congenital metabolic disorder, which is caused by the lack of a glycine cleavage system. The onset of hyperglycinemic symptom is during the neonatal or early infant period. Progressing grave neuromotor dysfunction is one of the main symptoms. They include myoclonic seizure, hiccup, apnea, decreased deep tendon reflex, lethargy and coma. The prognosis is mostly very poor. Furtherrnore, there aren't any effective treatments for nonketotic hyperglycinemia. To our knowledge, there has been no reported case of nonketotic hyperglycinemia in Korea. We experienced a case of nonketotic hyperglycinemia in a three-day- old boy, who had manifested with intractable seizure, mental alteration, apnea, hiccup and feeding intolerance. Unfortunately, he died of intractable seizure and neuromotor dysfunction at 20 days after birth. We could make an early diagnosis on the basis of clinical suspicion and high glycine signal in both cerebral white matter and basal ganglias with magnetic resonance spectroscopy (MRS), before amino acid analyses of serum and cerebrospinal fluid(CSF) were obtained. We report a Korean case of nonketotic hyperglycinemia with a brief review of literatures.
Apnea ; Basal Ganglia ; Coma ; Early Diagnosis ; Glycine ; Hiccup ; Humans ; Hyperglycinemia, Nonketotic ; Infant ; Korea ; Lethargy ; Magnetic Resonance Spectroscopy* ; Male ; Parturition ; Prognosis ; Reflex, Stretch ; Seizures

Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. He underwent a tracheostomy at the age of three months for severe laryngomalacia after a number of repeated hospitalizations due to respiratory problems and died at the age of four months from progressive respiratory failure. He was diagnosed as having CD based on a novel frameshift mutation (p.Gln458ArgfsX12) in the SOX9 gene, the mutation which has not yet been reported in Korea.
Campomelic Dysplasia/*diagnosis/genetics/radiography ; Disorders of Sex Development/genetics ; Frameshift Mutation ; Humans ; Infant ; Male ; Respiratory Insufficiency/complications ; SOX9 Transcription Factor/*genetics ; Sequence Analysis, DNA

PURPOSE: Continuous renal replacement therapy (CRRT) has become an essential modality for the care of critically ill pediatric patients who require renal support. However, experience with CRRT in the neonatal population is not common in Korea. In this study, we aimed to investigate the clinical features, outcomes, and complications of CRRT in neonates in a single neonatal intensive care unit (NICU). METHODS: We reviewed the medical records of 17 neonates who underwent CRRT at a NICU of a tertiary hospital. The data included demographic characteristics, diagnosis, complications, and laboratory and CRRT parameters. RESULTS: The median age at initiation of CRRT was 6 days after birth. All patients were treated with CRRT in continuous venovenous hemodiafiltration mode, with a median treatment duration of 57 hours. The main indication for CRRT was an inborn error of metabolism (IEM), followed by congenital renal disease and multiorgan failure. In patients with an IEM, the median plasma ammonia level at the CRRT initiation was 1,232 micromol/L, and the mean duration until the ammonia level decreased to half of the peak ammonia level was 7.3+/-2.5 hours. The overall hospital mortality rate was 41.2%. The outcomes of the 10 survivors after discharge included death (n=2), loss to follow-up (n=3), and survival with developmental delay (n=4). CONCLUSION: Although CRRT was effective in lowering the plasma ammonia level of neonates with IEM, the associated mortality and morbidity were high. Hence, further studies are needed to optimize the CRRT protocol and to establish an effective patient referral system in Korea.
Ammonia ; Critical Illness ; Diagnosis ; Follow-Up Studies ; Hemodiafiltration ; Hospital Mortality ; Humans ; Hyperammonemia ; Infant, Newborn ; Intensive Care, Neonatal* ; Korea ; Medical Records ; Metabolism ; Metabolism, Inborn Errors ; Mortality ; Parturition ; Plasma ; Referral and Consultation ; Renal Replacement Therapy* ; Survivors ; Tertiary Care Centers

Ulmus davidiana var. japonica Rehder (Urticales: Ulmaceae) (UD) is a tree widespread in northeast Asia. It is traditionally used for anticancer and anti-inflammatory therapy. The present study investigated the effect of an ethanol extract of UD on vascular tension and its underlying mechanism in rats. The dried root bark of UD was ground and extracted with 80% ethanol. The prepared UD extract was used in further analysis. The effect of UD on the cell viability, vasoreactivity and hemodynamics were investigated using propidium iodide staining in cultured cells, isometric tension recording and blood pressure analysis, respectively. Low dose of UD (10~100microg/ml) did not affect endothelial cell viability, but high dose of UD reduced cell viability. UD induced vasorelaxation in the range of 0.1~10microg/ml with an ED50 value of 2microg/ml. UD-induced vasorelaxation was completely abolished by removal of the endothelium or by pre-treatment with L-NAME, an inhibitor of nitric oxide synthase. UD inhibited calcium influx induced by phenylephrine and high K+ and also completely abolished the effect of L-NAME. Intravenous injection of UD extracts (10~100 mg/kg) decreased arterial and ventricular pressure in a dose-dependent manner. Moreover, UD extracts reduced the ventricular contractility (+dP/dt) in anesthetized rats. However, UD-induced hypotensive actions were minimized in L-NAME-treated rats. Taken together, out results showed that UD induced vasorelaxation and has antihypertensive properties, which may be due the activation of nitric oxide synthase in endothelium.
Animals ; Asia ; Blood Pressure ; Calcium ; Cell Survival ; Cells, Cultured ; Endothelial Cells ; Endothelium ; Ethanol ; Hemodynamics ; Injections, Intravenous ; NG-Nitroarginine Methyl Ester ; Nitric Oxide Synthase ; Nitric Oxide Synthase Type III ; Phenylephrine ; Propidium ; Rats ; Trees ; Ulmus ; Vasodilation ; Ventricular Pressure

BACKGROUND: Diabetes mellitus is one of the most common chronic diseases which primary care family physician encounters. This study was performed to describe the medical care for patients with diabetes based on the Cheonan Practice-Based Research Network. METHODS: From May 2005 to July 2005, 193 patients with diabetes were assessed among the patients visiting seven family medicine clinics in Cheonan. The data were collected through a questionnaire about patient's socioeconomic characteristics, the details of medical care including screening practices of diabetic complications, self-monitoring of blood glucose and exercise. RESULTS: Among the patients with diabetes, 25.4% reported no exercise and another 29.6% reported regular exercise of more than 4 times a week. The less educated and the more elderly patients reported less exercise. Only 37.3% of patients monitored their blood glucose at home. The more educated, the more likely the patients monitored their blood glucose. Only 18.1% of patients reported having an annual 24-hour urine protein examination. The more educated and the more income they had, the more annual 24-hour urine protein examination was done. Only 32.6% of patients reported having an annual ophthalmologic examination, but there was no associated factors with having an annual ophthalmologic examination. CONCLUSION: These data indicate that the medical care for diabetic patients, including exercise, self-monitoring of blood glucose, screening of complications, may not be optimal for preventing diabetes complications, and was influenced by demographic characteristics such as age and education level. It is necessary for health care team to provide systematic education for diabetes and ongoing close monitoring of self care practices.
Aged ; Blood Glucose ; Chronic Disease ; Chungcheongnam-do ; Diabetes Complications ; Diabetes Mellitus ; Education ; Humans ; Mass Screening ; Patient Care Team ; Physicians, Family ; Primary Health Care* ; Self Care* ; Surveys and Questionnaires